Variant report

Variant	rs191597813
Chromosome Location	chr12:31742915-31742916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr12:31742661-31743335	HepG2	liver:	n/a	n/a
2	MAFK	chr12:31742673-31743165	HepG2	liver:	n/a	n/a
3	PAX5	chr12:31742696-31743037	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:31742728-31744436	Gliobla	brain:	n/a	n/a
5	POLR2A	chr12:31742347-31744772	IMR90	lung:	n/a	n/a
6	ELK1	chr12:31742859-31743090	K562	blood:	n/a	n/a
7	SIN3AK20	chr12:31742497-31743362	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:31742595-31744836	GM19193	blood:	n/a	n/a
9	SIN3AK20	chr12:31742710-31743313	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:31742731-31744254	ECC-1	luminal epithelium:	n/a	n/a
11	UBTF	chr12:31742865-31744130	K562	blood:	n/a	n/a
12	CTCF	chr12:31742860-31743010	HBMEC	blood vessel:	n/a	n/a
13	EP300	chr12:31742538-31743254	A549	lung:	n/a	chr12:31743067-31743083 chr12:31743015-31743031 chr12:31743063-31743079
14	RFX5	chr12:31742532-31743294	HepG2	liver:	n/a	n/a
15	NFIC	chr12:31742169-31743119	GM12878	blood:	n/a	n/a
16	ELF1	chr12:31742724-31742994	K562	blood:	n/a	n/a
17	STAT5A	chr12:31742587-31743652	GM12878	blood:	n/a	chr12:31742787-31742799
18	YY1	chr12:31742674-31743481	GM12891	blood:	n/a	chr12:31743295-31743309 chr12:31743082-31743096 chr12:31742789-31742800 chr12:31743076-31743087 chr12:31743243-31743257 chr12:31743166-31743177 chr12:31743435-31743449
19	TBL1XR1	chr12:31742850-31743068	K562	blood:	n/a	n/a
20	EP300	chr12:31742689-31742986	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr12:31742607-31744526	HepG2	liver:	n/a	n/a
22	TBL1XR1	chr12:31742612-31743642	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:31742606-31744703	NB4	blood:	n/a	n/a
24	SMC3	chr12:31742792-31743077	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:31742723-31744440	A549	lung:	n/a	n/a
26	TAF1	chr12:31742550-31743150	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr12:31742804-31744113	H1-hESC	embryonic stem cell:	n/a	n/a
28	HNF4A	chr12:31742683-31743324	HepG2	liver:	n/a	chr12:31743091-31743106 chr12:31743091-31743106
29	TBP	chr12:31742788-31744007	K562	blood:	n/a	n/a
30	CEBPD	chr12:31742711-31743255	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:31742631-31744748	GM19099	blood:	n/a	n/a
32	RAD21	chr12:31742666-31743145	SK-N-SH_RA	brain:	n/a	chr12:31743088-31743100 chr12:31743088-31743098
33	EP300	chr12:31742488-31744023	ECC-1	luminal epithelium:	n/a	chr12:31743322-31743338 chr12:31743067-31743083 chr12:31743295-31743311 chr12:31743015-31743031 chr12:31743063-31743079
34	YY1	chr12:31742683-31742982	GM12892	blood:	n/a	chr12:31742789-31742800
35	CREB1	chr12:31742487-31743280	HepG2	liver:	n/a	n/a
36	NFIC	chr12:31742545-31743400	ECC-1	luminal epithelium:	n/a	n/a
37	TEAD4	chr12:31742593-31743150	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:31742561-31743173	HCT-116	colon:	n/a	n/a
39	MAX	chr12:31742722-31744366	K562	blood:	n/a	chr12:31744239-31744248
40	HNF4A	chr12:31742721-31743196	HepG2	liver:	n/a	chr12:31743091-31743106 chr12:31743091-31743106
41	POLR2A	chr12:31742665-31744720	GM18951	blood:	n/a	n/a
42	POLR2A	chr12:31742499-31743328	PANC-1	pancreas:	n/a	n/a
43	FOXA1	chr12:31742636-31743600	HepG2	liver:	n/a	n/a
44	POLR2A	chr12:31742612-31743417	HCT-116	colon:	n/a	n/a
45	MAX	chr12:31742788-31743633	K562	blood:	n/a	n/a
46	RAD21	chr12:31742415-31743339	A549	lung:	n/a	chr12:31743088-31743100 chr12:31743088-31743098
47	POLR2A	chr12:31742560-31743362	GM12892	blood:	n/a	n/a
48	YY1	chr12:31742702-31742938	K562	blood:	n/a	chr12:31742789-31742800
49	BHLHE40	chr12:31742555-31744782	HepG2	liver:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229 chr12:31744029-31744045
50	MAX	chr12:31742557-31743775	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
2	chr12:31477472..31480749-chr12:31741860..31744200,4	MCF-7	breast:
3	chr12:31645308..31649621-chr12:31742506..31745309,6	MCF-7	breast:
4	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-1	chr12:31742857-31743053	ENSG00000255867.1

Variant related genes	Relation type
DENND5B-AS1	TF binding region
ENSG00000252390	Chromatin interaction
ENSG00000231788	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000170456	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3371967	chr12:31741685-31745983	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv558088	chr12:31742463-31743879	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv558089	chr12:31742463-31744089	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3375615	chr12:31742710-31745258	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31741400-31745000	Active TSS	Ovary	ovary
2	chr12:31741600-31744200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:31741600-31744800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:31741600-31745000	Active TSS	Fetal Kidney	kidney
5	chr12:31741800-31743000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr12:31741800-31743600	Active TSS	Right Atrium	heart
7	chr12:31741800-31744400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:31741800-31744400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:31741800-31744400	Active TSS	GM12878-XiMat	blood
10	chr12:31741800-31744800	Active TSS	Brain Cingulate Gyrus	brain
11	chr12:31741800-31745000	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:31742000-31744200	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:31742000-31744200	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr12:31742000-31744400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:31742000-31744400	Active TSS	Fetal Intestine Small	intestine
16	chr12:31742000-31744400	Active TSS	HSMM	muscle
17	chr12:31742000-31744400	Active TSS	HSMMtube	muscle
18	chr12:31742000-31744600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:31742000-31744600	Active TSS	Brain Anterior Caudate	brain
20	chr12:31742000-31744600	Active TSS	Brain Germinal Matrix	brain
21	chr12:31742000-31744600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:31742000-31744600	Active TSS	Fetal Intestine Large	intestine
23	chr12:31742000-31744800	Active TSS	NHDF-Ad	bronchial
24	chr12:31742000-31745000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:31742000-31745000	Active TSS	Right Ventricle	heart
26	chr12:31742200-31743200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:31742200-31743200	Active TSS	Fetal Heart	heart
28	chr12:31742200-31744200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:31742200-31744200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:31742200-31744200	Active TSS	NHLF	lung
31	chr12:31742200-31744400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:31742200-31744400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:31742200-31744400	Active TSS	Brain Angular Gyrus	brain
34	chr12:31742200-31744400	Active TSS	Brain Hippocampus Middle	brain
35	chr12:31742200-31744400	Active TSS	Duodenum Mucosa	Duodenum
36	chr12:31742200-31744400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:31742200-31744400	Active TSS	HepG2	liver
38	chr12:31742200-31744600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr12:31742200-31744600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:31742200-31744800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:31742200-31744800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:31742200-31744800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:31742200-31744800	Active TSS	NHEK	skin
44	chr12:31742200-31745000	Active TSS	Colon Smooth Muscle	Colon
45	chr12:31742200-31745000	Active TSS	Fetal Brain Female	brain
46	chr12:31742400-31743000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:31742400-31744200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr12:31742400-31744200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:31742400-31744200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:31742400-31744200	Active TSS	Fetal Muscle Trunk	muscle

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